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Clinical Features of the Central Nervous System

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Myotonic Dystrophy

Abstract

Progressive muscular weakness is a typical symptom of myotonic dystrophy, but more recently, central nervous system (CNS) involvement has become a critical issue in the disorder. Recent studies have suggested the importance of cerebral involvement in myotonic dystrophy, which influences patients’ quality of life and functioning. CNS dysfunction in myotonic dystrophy has been investigated using various approaches, including cognitive (neuropsychological), neurophysiological, and neuroimaging studies. Studies have suggested that cognitive impairment in the disorder is variable, but several domains of cognition are frequently affected. Neurophysiological studies have examined the pathomechanisms of the disorder using various electrophysiological methods and modalities, such as somatosensory, visual, and auditory. Neuroimaging studies using different techniques have demonstrated that both white and gray matter of the brain are involved in the pathomechanisms of the disorder. Further accumulation of knowledge about the CNS involvement in myotonic dystrophy is required. Future possible directions of research are also discussed from each aspect in this chapter.

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Acknowledgments

This work was partly supported by grants from the Ministry of Health, Labour and Welfare of Japan (H28-Nanchitou(Nan)-Ippan-030), JSPS KAKENHI (16K09733 and 17K14067), and Japan Agency for Medical Research and Development (AMED) (17ek0109259).

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Authors and Affiliations

  1. Department of Special Needs Education, Oita University, Oita, Japan

    Haruo Fujino

  2. Department of Neurology and Center for Clinical Neuroscience, National Hospital Organization Okinawa Hospital, Okinawa, Japan

    Shugo Suwazono

  3. Department of Functional Brain Imaging Research, National Institute of Radiological Sciences, National Institutes for Quantum and Radiological Science and Technology, Chiba, Japan

    Yuhei Takado

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  1. Haruo Fujino
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  2. Shugo Suwazono
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  3. Yuhei Takado
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Correspondence to Haruo Fujino .

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Editors and Affiliations

  1. Department of Functional Diagnostic Science, Osaka University Graduate School of Medicine, Osaka, Japan

    Masanori P. Takahashi

  2. Department of Neurology, National Hospital Organization Toneyama National Hospital, Osaka, Japan

    Tsuyoshi Matsumura

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Fujino, H., Suwazono, S., Takado, Y. (2018). Clinical Features of the Central Nervous System. In: Takahashi, M., Matsumura, T. (eds) Myotonic Dystrophy. Springer, Singapore. https://doi.org/10.1007/978-981-13-0508-5_5

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